Prenatal diagnosis of paternal duplication of 11p15.5→14.3: Its implication of Beckwith–Wiedemann syndrome

Chen, Kuan‐Ju; Liu, Yu Mei; Li, Chien Hong; Chang, Yao‐Lung; Chang, Shuenn Dyh

doi:10.1016/j.tjog.2016.05.012

Cited by 5 publications

(6 citation statements)

References 13 publications

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“…The location and extent of the isolated de novo 11p15.1–p15.5 duplication in our patient is depicted with a gray box. Four additional patients from the literature with unbalanced translocations are displayed with black boxes (a–d) : (a) Case ID 4247 of the ECARUCA database with duplication 11p15-pter ( http://ecaruca.radboudumc.nl ); (b) Chen et al 11p14.3-p15.5 [ 13 ]; (c) Turleau et al 11p14-pter [ 11 ]; (d) Fryns et al 11p11-pter [ 12 ]. The ideogram is modified from UCSC genome browser.…”

Section: Discussionmentioning

confidence: 99%

“…Karyotyping revealed an unbalanced translocation 46,XY,der(2)t(2;11)(p25;p15)pat. Finally, Chen et al [ 13 ] recently reported a male fetus with overgrowth, enlarged placenta and CDH leading to a prenatal diagnosis of BWS. Conventional karyotyping revealed the finding of 46,XY,add(11)(q24.2)dn that was refined by array CGH to a 25 Mb duplication of 11p15.5p14.3 including the BWS/SRSCR and a 5.3 Mb deletion of 11q24.3q25.…”

Section: Discussionmentioning

confidence: 99%

“…A paternal origin of the duplication and a de novo occurrence was confirmed. However, it cannot be excluded that the phenotypes of the latter four patients (index patients from Turleau et al [ 11 ], Fryns et al [ 12 ], Chen et al [ 13 ], and ECARUCA patient 4247) are at least partially caused by their concurrent imbalances, e.g. the deletion of 4q33-qter, deletion of 11q25-qter, deletion of 2p25-pter and deletion of 11q24.3-q25.…”

Section: Discussionmentioning

confidence: 99%

“…The finding of patients with 11p15 duplications with CDH is not consistently coinciding with BWS (Table 1 ). In fact, only two of the four cases from the literature with CDH and 11p duplication presented with BWS [ 11 , 13 ]. The infrequent occurrence of BWS depends most likely on modifying factors that may include methylation status, extent of duplication, parental origin, and single nucleotide variants that have not been investigated in those reports.…”

Section: Discussionmentioning

confidence: 99%

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De Novo Duplication of 11p15 Associated With Congenital Diaphragmatic Hernia

et al. 2018

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Background: Congenital diaphragmatic hernia (CDH) is a rare defect of the diaphragm commonly associated with high morbidity and mortality due to lung hypoplasia and pulmonary hypertension. Although in 70% of patients the etiology of a CDH remains unknown, a multitude of causative chromosomal aberrations has been identified.Case presentation: We describe the first case of isolated 11p15 duplication with CDH. The 18.6 Mb large duplication affected 285 RefSeq genes and included the Beckwith–Wiedemann (BWS)-associated imprinting control region 2 (ICR2, KCNQ1OT1 TSS DMR), whereas the ICR1 (H19 TSS DMR) was not affected. We were able to demonstrate de novo occurrence of the duplication. The paternal origin of the chromosomal material was detected by methylation testing the ICR2. Corresponding to other patients with duplications of the paternal ICR2 copy, a BWS phenotype is not present.Conclusions: The patient presented here together with the review of four other cases from the literature indicate an association between duplications of the chromosomal region 11p15 and developmental defects of the diaphragm. Thus, we suggest duplications of 11p15 as a rare cause of CDH. This association may or may not appear in the context of BWS depending on the extent of the duplication and the imprinting status. Hence, a genetic workup should be performed in patients with CDH, particularly when other abnormalities are noted.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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De Novo Duplication of 11p15 Associated With Congenital Diaphragmatic Hernia

et al. 2018

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“…Review of literature found six reports with known size of paternally derived duplications involving in BWS [ 6 , 9 , 14 , 21 – 23 ]. The duplication segments ranged in size from 0.3 Mb to 25 Mb (Fig.…”

Section: Discussionmentioning

confidence: 99%

De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome

et al. 2017

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BackgroundThe molecular etiology of Beckwith-Wiedemann syndrome (BWS) is complex and heterogeneous. Several subtypes of epigenetic-genetic alterations including aberrant methylation patterns, segmental uniparental disomy, single gene mutations, and copy number changes have been described. An integrated molecular approach to analyze the epigenetic-genetic alterations is required for accurate diagnosis of BWS.Case presentationWe reported two Chinese cases with BWS detected by genome-wide copy number analysis and locus-specific methylation profiling. Prenatal analysis on cord blood of patient 1 showed a de novo paternal origin duplication spanning 896Kb at 11p15.5. Patient 2 was referred at 2-month old and the genetic analysis showed a de novo 228.8Kb deletion at 11p15.5 telomeric end and a de novo duplication of 2.5 Mb at 11p15.5–15.4. Both the duplications are of paternal origin with gain of methylation at the imprinting center 1 and thus belong to the subgroup of a low tumor risk.ConclusionResults from these two cases and other reported cases from literature indicated that paternally derived duplications at 11p15.5 region cause BWS. Combined chromosome microarray analysis and methylation profiling provided reliable diagnosis for this subtype of BWS. Characterization of genetic defects in BWS patients could lead to better understanding the genetic mechanisms of this clinically and genetically heterogeneous disorder.

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Assisted Reproductive Technologies and imprinting disorders: Results of a study from a French congenital malformations registry

Collardeau-Frachon

Scanvion

et al. 2018

European Journal of Medical Genetics

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Prenatal diagnosis of paternal duplication of 11p15.5→14.3: Its implication of Beckwith–Wiedemann syndrome

Abstract: We presented a prenatally detected chromosomal aberration characterized by paternal duplication of chromosome 11p15.5, which strongly related to the phenotypic manifestation of BWS.

Cited by 5 publications

References 13 publications

De Novo Duplication of 11p15 Associated With Congenital Diaphragmatic Hernia

De Novo Duplication of 11p15 Associated With Congenital Diaphragmatic Hernia

De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome

Assisted Reproductive Technologies and imprinting disorders: Results of a study from a French congenital malformations registry

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